Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3809910
Disease: ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES
ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis. 24031089 2013
CUI: C3809910
Disease: ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES
ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES 		0.700 GermlineCausalMutation disease ORPHANET Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis. 24031089 2013
CUI: C3809910
Disease: ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES
ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES 		0.700 Biomarker disease GENOMICS_ENGLAND A missense mutation in the bovine SLC35A3 gene, encoding a UDP-N-acetylglucosamine transporter, causes complex vertebral malformation. 16344554 2006
CUI: C3809910
Disease: ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES
ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES 		0.700 Biomarker disease CTD_human
CUI: C3809910
Disease: ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES
ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES 		0.700 CausalMutation disease CLINVAR Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis. 24031089 2013
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.120 GeneticVariation disease BEFREE Spontaneous mutation in SLC35A3 has been discovered in cattle worldwide, recapitulating the human phenotype with arthrogryposis and additional skeletal defects known as Complex Vertebral Malformation syndrome. 24031089 2013
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.120 GeneticVariation disease BEFREE Previously reported patients with SLC35A3-CDG have been described with syndromic autism, epilepsy, and arthrogryposis. 28777481 2017
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.120 Biomarker disease HPO
CUI: C0017638
Disease: Glioma
Glioma 		0.100 GeneticVariation disease GWASDB Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility. 19578366 2009
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.100 Biomarker disease HPO
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 Biomarker disease HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.100 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.100 Biomarker disease HPO
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		0.100 Biomarker disease HPO
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.010 GeneticVariation disease BEFREE Previously reported patients with SLC35A3-CDG have been described with syndromic autism, epilepsy, and arthrogryposis. 28777481 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.010 Biomarker disease BEFREE With this study, we add SLC35A3 to the gene list of epilepsies. 28328131 2017
CUI: C0265343
Disease: Jarcho-Levin syndrome
Jarcho-Levin syndrome 		0.010 Biomarker disease BEFREE Here, we report the first case in humans of SLC35A3-related vertebral anomalies. 28777481 2017
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.010 GeneticVariation disease BEFREE Congenital disorders of glycosylation, including SLC35A3-CDG, can present as a wide phenotypic spectrum, including skeletal dysplasia. 28777481 2017
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.010 GeneticVariation disease BEFREE Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects. 28328131 2017
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.010 GeneticVariation disease BEFREE Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis. 24031089 2013
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		0.100 Biomarker phenotype HPO